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Updated: Jun 10, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Pre-emptive pharmacogenetic testing in the acute hospital setting: a cross-sectional study
John H McDermott1,2, Kerry Burke2,3, Neil Fullerton1
1Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Oxford Road, Manchester, UK.
Background:
Pharmacogenetic-guided prescribing can be used to improve the safety and effectiveness of medicines. There are several approaches by which this intervention might be implemented in clinical practice, which will vary depending on the health system and clinical context.
Aim:
To understand the clinical utility of panel-based pharmacogenetic testing in patients admitted acutely to hospital and to establish variables that predict if an individual might benefit from the intervention.
Design:
A cross-sectional study recruiting patients admitted acutely to hospital.
Methods:
Participants underwent panel-based pharmacogenetic testing, and their genetic results were analysed in their context of the medicines they had been exposed to as an inpatient. The primary outcome was the proportion of patients with clinically actionable gene-drug interactions. Individual variables that predict the clinical utility of pharmacogenetic testing were established via logistic regression.
Results:
Genetic and prescribing data were available for 482 inpatients (55% male; median age 61.2 years; range: 18-96), 97.9% of whom carried a pharmacogenetic result of interest. During their admission, 79.5% of patients were exposed to a medicine for which there is pharmacogenetic prescribing guidance available. Just under one in seven individuals (13.7%) had a clinically actionable gene-drug interaction. Increasing age (>50 years) was positively correlated with the likelihood (2.7-fold increased risk) of having a clinically actionable interaction.
Conclusions:
These findings demonstrate the potential scale, and potential clinical utility, of pharmacogenetic testing as an intervention, highlighting the need to develop infrastructure to support healthcare professionals make use of this emerging tool.
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